ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.476A>T (p.Asp159Val) (rs28931592)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000018551 SCV000800655 uncertain significance Deafness, autosomal recessive 1A 2018-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991848 SCV001143671 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing
OMIM RCV000018551 SCV000038833 pathogenic Deafness, autosomal recessive 1A 2002-09-15 no assertion criteria provided literature only

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